Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618977 http://purl.bioontology.org/ontology/OMIM/618977
Preferred Name	OPTIC ATROPHY 12
Synonyms	OPA12
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OPA12
prefLabel	OPTIC ATROPHY 12
Gene Symbol	SPAX5 OPA12 AFG3L2 SCA28
Scope Statement	Variable additional features [MISCELLANEOUS] Slowly progressive [MISCELLANEOUS] Caused by mutation in the AFG3-like matrix AAA peptidase, subunit 2 gene (AFG3L2, 604581.0014) [MOLECULAR BASIS] Later onset (in some patients) [MISCELLANEOUS] Onset usually in first decade [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU040502 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU072001 http://purl.bioontology.org/ontology/OMIM/MTHU036648 http://purl.bioontology.org/ontology/OMIM/MTHU072000 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU044364 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU072002 http://purl.bioontology.org/ontology/OMIM/MTHU065090 http://purl.bioontology.org/ontology/OMIM/MTHU000152 See more See less
tui	T047
Gene Locus	18p11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618977
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436534
OMIM Entry Type	3
OMIM MimType Value	pound

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